I46N (p.Ile46Asn) variant of COMT (Catechol O-methyltransferase)
I46N (p.Ile46Asn) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I46N (p.Ile46Asn) variant details
- p.Ile46Asn
- ExAC rs762297267
- gnomAD rs762297267
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.31
- CADD 22.40
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available